Characterisation of Clinical Phenotypes and Outcomes of Ma2 Patient


Paraneoplastic neurological syndromes (PNS) are rare complications of cancer occurring in 0.01% of cases. Their clinical, biological and radiological presentation is heterogeneous and may constitute a diagnostic challenge. Anti-Ma2 PNS are rare diseases with a guarded prognosis. They are most often associated with a seminoma-like testicular tumor but can also be associated with lung cancer. Classically, they present as limbic, diencephalic and/or brainstem encephalitis. Anti-Ma2 antibodies target intracellular receptors and are characteristic of a particular form of encephalitis. Atypical manifestations including narcolepsy-cataplexy, weight gain, sexual dysfunction and motor neuron syndrome have been described and explain the difficulty in diagnosing anti-Ma2 associated PNS. It seems interesting to better characterize the phenotypes of Ma2 patients in order to optimize the diagnosis and follow-up.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Retrospective
  • Study Primary Completion Date: March 1, 2022


  • Diagnostic Test: Diagnosis test
    • Tests can be used: immunofluorescence, immunodot, western blot, tests CBA on sera or CSF.

Arms, Groups and Cohorts

  • Patient with Ma2 antibody
    • This is a non-interventional study involving biological samples. Samples are already stored in biobank repositories and collected as part of “good clinical practice” in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the “Centre de Ressources Biologiques des Hospices Civils de Lyon” (CRB-HCL) (including tissue, cells or biological fluids).

Clinical Trial Outcome Measures

Primary Measures

  • Rankin score
    • Time Frame: 12 month after diagnosis
    • Follow up and survival (rankin score)

Participating in This Clinical Trial

Inclusion Criteria

  • Neurological disorder – Anti-Ma2 positivity in sera or CSF – Patient > 18 years old Exclusion Criteria:

  • Patient without clinical data – Patient without Ma2 antibody in sera or CSF

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Hospices Civils de Lyon
  • Provider of Information About this Clinical Study
    • Sponsor

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